In the United States, roughly 30 million people, or 10 percent of the population, suffer from a range of over 7,000 rare diseases yet little is known about genetic testing. One Brockton mother seeks to change that.

BROCKTON - When Luke Creedon was born, his parents expected him to grow and develop as any other child. But early on, Janis Creedon and her husband knew something was wrong with their son.

Luke couldn’t hold his head up. And when he was 8 months old, Janis Creedon said, she and her husband were told that Luke might never walk because his muscles were not developing in a normal way.

The Brockton couple later learned that the slow development of their boy, who is now 2 years old, was due to a rare genetic condition – so rare, they say, that doctors can’t diagnosis it with a precise name. In addition to limited muscle development, Luke has difficulty swallowing liquids and his speech is slurred.

He is far from alone in experiencing a disease or condition related to genetics and genes. Some of these conditions are fairly common; some, like Luke’s, are rare bordering on unique.

In the United States, 30 million people – almost 10 percent of the population – suffer from more than 7,000 rare genetic diseases, some incapacitating and some hardly noticeable, said Ilanna Jacqueline.

Jacqueline is a spokeswoman for the Global Genes Project, a patient advocacy organization focused on genetic diseases and the patients who experience them.

While there may be only a small number of cases of individual rare diseases, collectively people with rare diseases represent a population that is larger than the AIDS and cancer communities combined, Jacqueline said.

Despite its size, she added, the rare disease community lacks a voice. Only 15 percent of rare diseases have organizations providing support or research. And roughly 95 percent of all rare diseases don’t have a single drug approved by the Federal Drug Administration for treatment of the condition, she added.

Galvanized by this reality, Janis Creedon said she was driven to become an advocate not only for her son, but for increased awareness of rare genetic conditions and the value of genetic testing.

What’s being called a “rare” event is scheduled this coming Friday in Brockton to raise awareness of rare genetic diseases in the region – in sync with similar events to be held in communities across the country on that day. The event is free and open to the public.

The Brockton event is to be held at 6 p.m. Friday at Christ Congregational Church, 1350 Pleasant St. Denim ribbons, the organization’s symbol for genetic diseases, will be distributed. Information about rare genetic diseases and condition, and about genetic testing, will be available at the event.

People coming to the event are encouraged to wear blue jeans in support.

“People are just starting to become aware of rare (genetic) diseases, but it’s not enough,” Creedon said. “You feel like you have to do something more. Where there’s awareness, there’s treatment and there’s a cure.”

Unlike testing for lead poisoning and common diseases, genetic testing is virtually uncharted territory, she said.

For her son Luke, it has been a long and difficult two years.

Unhappy with the way Luke’s first pediatrician handled their concerns, the family settled on a new doctor who immediately referred Luke to a geneticist at Children’s Hospital in Boston.

Luke spent most of last year in and out of Children’s Hospital, where doctors ran numerous tests and scans. After extensive therapy treatments to help strengthen his muscles, Luke’s condition has improved, said Creedon, who is a licensed practical nurse.

Luke still has problems forming words when he speaks, and he can’t go up or down stairs, his mother said, but he has improved physically. He now races around the family’s Brockton home on his push car, or as Luke likes to call it, his “bebah.”

Though early detection and intervention helped Luke, Creedon considers her family fortunate compared with others who must typically wait up to two years just to be seen by a geneticist.

In fact, it could take nine years for a patient with a rare disease to be diagnosed, said Jacqueline, the spokeswoman for Global Genes Project, which is based in California. In that time, a patient is likely to get up to three misdiagnoses, she said.

“The process can be complicated and stressful, and it’s an economically hard place to be in for families,” she said.

Children with rare genetic diseases and conditions are particularly vulnerable.

Because of a lack of awareness and funding, 30 percent of children with rare diseases will not live to be 5 years old, said Creedon, who is the mother of one other son and two daughters.

There has been movement in Washington that could open a brighter future for children born with rare genetic conditions. Policy makers and pharmaceutical companies are getting the information needed to begin clinical trials and possible treatment, Jacqueline said.

But much of the battle remains with parents like the Creedons and community leaders on the front lines, she said.

“It’s hugely important because these parents and advocates, speaking up for people with these diseases, they have to go out and make waves,” Jacqueline said.

Creedon agreed. It’s important, she said, for parents whose children aren’t developing normally to trust their instincts, consult a doctor, do their research and reach out to advocacy organizations that can help.

If she hadn’t done all those things, she said, Luke would not be as far along as he is.